Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: MSH6: 2735G>A; Trp912Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: MSH6: 2735G>A; Trp912Ter

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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Prevalence of deleterious mutations among patients with breast cancer referred for multigene panel testing in a Romanian population.

Clujul Medical (1957)

Goidescu, Iulian Gabriel IG; Caracostea, Gabriela G; Eniu, Dan Tudor DT; Stamatian, Florin Vasile FV

Publication Date: 2018

Variant appearance in text: MSH6: 2735G>A

PubMed Link: 29785153

Variant Present in the following documents:

• Main text

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Distinctive DNA mismatch repair and APC rare variants in African Americans with colorectal neoplasia.

Oncotarget

Ashktorab, Hassan H; Azimi, Hamed H; Varma, Sudhir S; Tavakoli, Payaam P; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-11-21

Variant appearance in text: MSH6: W912X

PubMed Link: 29245953

Variant Present in the following documents:

• oncotarget-08-99966-s003.xlsx, sheet 2

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Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

European Journal Of Human Genetics : Ejhg

Jansen, Anne Ml AM; van Wezel, Tom T; van den Akker, Brendy Ewm BE; Ventayol Garcia, Marina M; Ruano, Dina D; Tops, Carli Mj CM; Wagner, Anja A; Letteboer, Tom Gw TG; Gómez-García, Encarna B EB; Devilee, Peter P; Wijnen, Juul T JT; Hes, Frederik J FJ; Morreau, Hans H

Publication Date: 2016-07

Variant appearance in text: MSH6: W912*

PubMed Link: 26648449

Variant Present in the following documents:

• Main text
• ejhg2015252a.pdf

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